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HIES
MCID: HYP458
MIFTS: 58

Hyper Ige Syndrome (HIES)

Categories: Blood diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hyper Ige Syndrome

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MalaCards integrated aliases for Hyper Ige Syndrome:

Name: Hyper Ige Syndrome 12 52 15
Hyper-Ige Syndrome 58 36 29 54 6
Hyperimmunoglobulin E Syndrome 52 39
Hyper-Ige Recurrent Infection Syndrome 52
Hyper Immunoglobulin E Syndrome 12
Hartnup Disease 71
Job Syndrome 71
Hyper Ige 74
Hies 52

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Immune diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0080545
KEGG 36 H01968
ICD10 32 D82.4
ICD10 via Orphanet 33 D82.4
UMLS via Orphanet 72 C3887645
Orphanet 58 ORPHA331223
UMLS 71 C0018609 C3887645
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Summaries for Hyper Ige Syndrome

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KEGG : 36 Hyper-IgE syndrome (HIES) is a complex primary immunodeficiency characterized by atopic dermatitis associated with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria. Most cases of HIES are sporadic although can be inherited as autosomal dominant and autosomal recessive traits. One of the involved genes in pathogenesis of HIES is STAT3 that causes autosomal dominant type. In most sporadic and autosomal dominant cases, the HIES is part of a multisystem disorder including abnormalities of the soft tissue, skeletal, and dental systems. In contrast, those with autosomal recessive-HIES have severe molluscum contagiosum and viral infections and may develop severe neurological complications. Recently, It has been reported that mutations in DOCK8, TYK2, and PGM3 cause autosomal recessive HIES.

MalaCards based summary : Hyper Ige Syndrome, also known as hyper-ige syndrome, is related to leukocyte adhesion deficiency, type i and hyper ige recurrent infection syndrome 1, and has symptoms including seizures An important gene associated with Hyper Ige Syndrome is STAT3 (Signal Transducer And Activator Of Transcription 3), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and bone, and related phenotypes are hematopoietic system and cellular

Disease Ontology : 12 A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs.

NIH Rare Diseases : 52 Hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE , skin inflammation (dermatitis) and recurrent skin and lung infections. There are two forms of HIES, which have the above characteristics in common but otherwise have distinct presentations, courses and outcomes: autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES). Click on the embedded links to learn more about autosomal dominant HIES (or Job syndrome) and autosomal recessive HIES.

Wikipedia : 74 Hyperimmunoglobulinemia E syndrome (HIES), of which the autosomal dominant form is called Job's syndrome... more...

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Related Diseases for Hyper Ige Syndrome

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Diseases related to Hyper Ige Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1733)
# Related Disease Score Top Affiliating Genes
1 leukocyte adhesion deficiency, type i 32.3 IL17A DOCK8 CCR6
2 hyper ige recurrent infection syndrome 1 31.6 ZNF341 TYK2 STAT3 PGM3 IL6 IL17A
3 cysticercosis 31.4 TLR4 IL6 IL10 IGHE
4 hypereosinophilic syndrome 31.2 STAT3 IL4 IL13 IL10 IGHE IGES
5 chronic mucocutaneous candidiasis 31.0 ZNF341 TYK2 TLR2 STAT3 IL6 IL4
6 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.9 IL17A IL10 IFNG
7 allergic bronchopulmonary aspergillosis 30.9 IL4 IL10 IGHE IGES IFNG
8 ige responsiveness, atopic 30.8 IL4R IL4 IL13 IL10 IGHE IGES
9 orofacial granulomatosis 30.8 IL4 IL10 IFNG
10 folliculitis 30.7 IL4 IFNG CCR6
11 pollen allergy 30.7 IL4R IL13 IGHE
12 body mass index quantitative trait locus 11 30.7 TLR9 TLR4 TLR2 STAT3 IL6 IL4
13 smallpox 30.7 IRAK4 IL4 IFNG
14 toxocariasis 30.6 IL4 IL10 IGHE
15 hidradenitis suppurativa 30.6 TLR4 IL17A IFNG
16 hidradenitis 30.6 TLR4 IL17A IFNG
17 epidemic typhus 30.6 TLR4 TLR2 IL10
18 neurosyphilis 30.6 TLR2 IL17A IL10
19 strongyloidiasis 30.6 IL13 IGHE IFNG
20 poliomyelitis 30.5 IL4 IL10 IFNG
21 t cell deficiency 30.4 IL17A DOCK8 CCR6
22 pulmonary fibrosis, idiopathic 30.4 TLR9 TLR4 TLR2 STAT3 IL6 IL4
23 milk allergy 30.3 IL4 IL13 IL10 IGHE IGES
24 elephantiasis 30.3 IL4 IL13 IL10
25 eczema herpeticum 30.3 IL4 IFNG DOCK8 CCR6
26 mycosis fungoides 30.3 STAT3 IL4 IFNG CCR6
27 schistosomiasis 30.2 IL4 IL17A IL13 IL10 IGHE IFNG
28 histoplasmosis 30.2 IL17A IFNG CCR6
29 tetanus 30.2 IL6 IL4 IL13 IL10 IFNG
30 exanthem 30.1 IL6 IL10 IFNG CCR6
31 esophagitis, eosinophilic, 1 30.1 IL4 IL13 CCR6
32 herpes zoster 30.1 TLR2 IL10 IFNG CCR6
33 histiocytosis 30.1 IL17A IFNG CCR6
34 clonorchiasis 30.1 IL10 IGHE IFNG
35 acute graft versus host disease 30.0 IL4 IL10 IFNG
36 food allergy 30.0 TLR4 TLR2 IL4R IL4 IL17A IL13
37 lymphadenitis 30.0 TLR4 STAT3 IL10 IFNG CCR6
38 trichinosis 30.0 IL4 IL13 IL10
39 septic arthritis 30.0 TLR9 TLR4 TLR2 IL6 IFNG
40 rubella 30.0 TLR4 IL6 IL4 IL10 IFNG
41 encephalitis 30.0 TLR2 IL6 IL4 IL10
42 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 30.0 STAT3 IL4 IL17A IL10 DOCK8 CCR6
43 pleurisy 30.0 TLR4 TLR2 IFNG
44 chronic graft versus host disease 30.0 IL10 IFNG
45 onchocerciasis 29.9 IL4 IL13 IGHE
46 lung abscess 29.9 STAT3 IL6 IGES IFNG DOCK8
47 plague 29.9 TLR9 TLR4 TLR2 IL6 IL10
48 syphilis 29.9 IL6 IL17A IFNG CCR6
49 hepatitis c 29.9 TYK2 STAT3 IL10 IFNG
50 allergic rhinitis 29.9 IL4R IL4 IL17A IL13 IL10 IGHE

Graphical network of the top 20 diseases related to Hyper Ige Syndrome:



Diseases related to Hyper Ige Syndrome
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Symptoms & Phenotypes for Hyper Ige Syndrome

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UMLS symptoms related to Hyper Ige Syndrome:


seizures

MGI Mouse Phenotypes related to Hyper Ige Syndrome:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.42 CCR6 DOCK8 IFNG IL10 IL13 IL17A
2 cellular MP:0005384 10.39 DOCK8 IFNG IL10 IL13 IL4 IL4R
3 immune system MP:0005387 10.39 CCR6 DOCK8 IFNG IL10 IL13 IL17A
4 homeostasis/metabolism MP:0005376 10.38 CCR6 IFNG IL10 IL13 IL17A IL4
5 digestive/alimentary MP:0005381 10.35 IFNG IL10 IL13 IL17A IL4 IL4R
6 growth/size/body region MP:0005378 10.29 IFNG IL10 IL13 IL17A IL4 IL4R
7 endocrine/exocrine gland MP:0005379 10.26 IFNG IL10 IL13 IL17A IL4 IL4R
8 mortality/aging MP:0010768 10.21 IFNG IL10 IL13 IL17A IL4 IL4R
9 integument MP:0010771 10.17 IFNG IL10 IL13 IL17A IL4 IL4R
10 nervous system MP:0003631 10.07 CCR6 DOCK8 IFNG IL10 IL13 IL4
11 liver/biliary system MP:0005370 10.06 IFNG IL10 IL4 IL4R IL6 IL6ST
12 neoplasm MP:0002006 9.87 IFNG IL10 IL6 IL6ST STAT3 TLR2
13 renal/urinary system MP:0005367 9.81 IFNG IL17A IL4 IL6 PGM3 STAT3
14 respiratory system MP:0005388 9.65 IFNG IL10 IL13 IL17A IL4 IL4R
15 skeleton MP:0005390 9.36 IFNG IL10 IL13 IL17A IL4 IL6
Sources

Drugs & Therapeutics for Hyper Ige Syndrome

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Drugs for Hyper Ige Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
2
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
3
Posaconazole Approved, Investigational, Vet_approved Phase 3 171228-49-2 147912
4 Anti-Infective Agents Phase 3
5 Antiparasitic Agents Phase 3
6 Antiprotozoal Agents Phase 3
7 Antifungal Agents Phase 3
8 Hormone Antagonists Phase 3
9 Hormones Phase 3
10 Cytochrome P-450 Enzyme Inhibitors Phase 3
11
Amphotericin B Approved, Investigational Phase 2 1397-89-3 5280965 14956
12
Histamine Approved, Investigational Phase 2 51-45-6 774
13
Sodium citrate Approved, Investigational Phase 2 68-04-2
14
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
15 Immunoglobulins Phase 2
16 Antibodies Phase 2
17 Agglutinins Phase 2
18 Vaccines Phase 2
19 Amebicides Phase 2
20 Anti-Bacterial Agents Phase 2
21 Liposomal amphotericin B Phase 2
22 Autoantibodies Phase 2
23 Neurotransmitter Agents Phase 2
24 Antacids Phase 2
25 Anti-Ulcer Agents Phase 2
26 Histamine Antagonists Phase 2
27 Ranitidine bismuth citrate Phase 2
28 Citrate Phase 2
29 Histamine H2 Antagonists Phase 2
30
Histamine Phosphate Phase 2 51-74-1 65513
31 Gastrointestinal Agents Phase 2
32 Bismuth tripotassium dicitrate Phase 2
33
Bismuth Phase 2 7440-69-9 16682734 105143
34
Omalizumab Approved, Investigational Phase 1 242138-07-4
35
Warfarin Approved Phase 1 81-81-2 6691 54678486
36 Respiratory System Agents Phase 1
37 Anti-Allergic Agents Phase 1
38 Immunoglobulins, Intravenous Phase 1
39 Anti-Asthmatic Agents Phase 1
40 Pharmaceutical Solutions Phase 1

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Open Label, Limited Access Protocol of Posaconazole in Invasive Fungal Infections Completed NCT00033982 Phase 3 Posaconazole
2 A Phase 2a Study to Evaluate the Safety, Tolerability, and Immunogenicity of One Dose of NDV-3A Vaccine in Patients With STAT3-Mutated Hyper-IgE Syndrome Completed NCT02996448 Phase 2 NDV-3A
3 A Phase 2a Efficacy, Safety, Tolerability, and PK Study of Encochleated Amphotericin B (CAMB/MAT2203) in Patients With Mucocutaneous Candidiasis Who Are Refractory or Intolerant to Standard Non-Intravenous Therapies Active, not recruiting NCT02629419 Phase 2 Amphotericin B
4 Bilateral Orthotopic Lung Transplant in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant From Partially HLA-Matched Cadaveric Donors Enrolling by invitation NCT01852370 Phase 1, Phase 2
5 A Double-Blind, Randomized, Placebo-Controlled Cross-Over Study Assessing the Role of Pathogen-Specific IgE and Histamine Release in the Hyper-IgE Syndrome and the Effect of Ranitidine on Laboratory and Clinical Manifestations Terminated NCT00527878 Phase 2 Ranitidine;Placebo
6 Pilot Study of Omalizumab (Xolair) in Hyper IgE (Job's) Syndrome Completed NCT00260702 Phase 1 Omalizumab (Xolair)
7 Diagnostic Efficacy of Virtual Bronchoscopy Completed NCT00001515 Phase 1
8 Immunologic Effects of Supplemental Monosaccharide and Nucleoside Derivatives in Patients With Inherited Disorders of Glycosylation Terminated NCT02511041 Phase 1 N-Acetylglucosamine (GlcNAc);Uridine
9 NFIL3-induced Pathological Enhancement of IgE Class Switch Recombination in Hyper-IgE Syndrome Unknown status NCT02228941
10 Validation Study of mHealth Technology in HIV to Improve Empowerment and Healthcare Utilisation: Research and Innovation to Generate Evidence for Personalised Care (EmERGE) Unknown status NCT02904733
11 Human Immunity Against Staphylococcus Aureus Skin Infection Completed NCT02262819 S. aureus
12 Genetic Disorders of Mucociliary Clearance Completed NCT00368446
13 Cognitive Function in Leukocyte Disorders Completed NCT00005933
14 Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES) Recruiting NCT00006150
15 Studies of Skin Microflora in Healthy Individuals and Atopic Dermatitis Patients Recruiting NCT00605878
16 NIH Participation to USIDNET Registry Recruiting NCT01953016
17 Natural History, Genetics, Phenotype and Treatment of Mycobacterial Infections Recruiting NCT00018044
18 Skin Immunity Sample Collection Involving Blisters and Biopsies Not yet recruiting NCT03921515 Early Phase 1

Search NIH Clinical Center for Hyper Ige Syndrome

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Genetic Tests for Hyper Ige Syndrome

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Genetic tests related to Hyper Ige Syndrome:

# Genetic test Affiliating Genes
1 Hyper-Ige Syndrome 29
Sources

Anatomical Context for Hyper Ige Syndrome

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MalaCards organs/tissues related to Hyper Ige Syndrome:

40
Skin, Lung, Bone, T Cells, B Cells, Bone Marrow, Neutrophil
Sources

Publications for Hyper Ige Syndrome

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Articles related to Hyper Ige Syndrome:

(show top 50) (show all 586)
# Title Authors PMID Year
1
Reduced expression of chemoattractant receptors by polymorphonuclear leukocytes in Hyper IgE Syndrome patients. 54 61
20005258 2010
2
Uncovering an IL-10-dependent NF-kappaB recruitment to the IL-1ra promoter that is impaired in STAT3 functionally defective patients. 61 54
20032313 2010
3
A novel mutation in the signal transducer and activator of transcription 3 (STAT3) gene, in hyper-IgE syndrome. 61 54
20149460 2010
4
Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases. 54 61
20093388 2010
5
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. 54 61
20159255 2010
6
Hyper-IgE syndrome with STAT3 mutation: a case report in Mainland China. 54 61
20490271 2010
7
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. 61 54
20004785 2009
8
Hyper-IgE syndrome. 54 61
19717292 2009
9
TH17 cells and regulatory T cells in primary immunodeficiency diseases. 61 54
19410687 2009
10
STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families. 61 54
18841165 2009
11
[Hyper-IgE syndrome with mutation in STAT3 gene - case report and literature review]. 54 61
19648655 2009
12
Hyper IgE syndrome with umbilical hernia. 54 61
20101344 2009
13
Rare association of hyper IgE syndrome with cervical rib and natal teeth. 54 61
20101342 2009
14
Elevated serum immunoglobulin E (IgE): when to suspect hyper-IgE syndrome-A 10-year pediatric tertiary care center experience. 54 61
19331717 2009
15
Insights into the role of STAT3 in human lymphocyte differentiation as revealed by the hyper-IgE syndrome. 54 61
19109129 2009
16
Primary immune deficiencies with aberrant IgE production. 61 54
19084106 2008
17
Reduced memory B cells in patients with hyper IgE syndrome. 61 54
18835223 2008
18
Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3. 54 61
18978467 2008
19
Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups. 61 54
18706697 2008
20
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. 61 54
18602572 2008
21
Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. 54 61
18591410 2008
22
Histopathologic Findings of Pneumatocele in a Patient with Hyper-IgE syndrome, compatible with cystic adenomatoid malformation. 54 61
18552413 2008
23
Fournier gangrene associated with hyper IgE syndrome (Job syndrome). 61 54
18380833 2008
24
[STAT3 mutation identified in patients with Hyper-IgE syndrome]. 61 54
18334168 2008
25
Hyperimmunoglobulin E syndrome (Job's syndrome). 61 54
19284090 2008
26
STAT3 mutations in the hyper-IgE syndrome. 54 61
17881745 2007
27
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. 54 61
17676033 2007
28
[Allergic disease with IgE hypersynthesis. Proposal of a new denomination for an allergic disease confused with immunodeficiency]. 54 61
18297852 2007
29
The hyper IgE syndrome and mutations in TYK2. 54 61
17521577 2007
30
Causes of death in hyper-IgE syndrome. 61 54
17335882 2007
31
[Pneumocystis carinii pneumonia in a patient with hyper-IgE syndrome]. 61 54
17554982 2007
32
Hyper IgE syndrome: review and future directions. 61 54
20477605 2005
33
No indication for a defect in toll-like receptor signaling in patients with hyper-IgE syndrome. 61 54
16133988 2005
34
Production of biologically active recombinant human soluble CD23 and its effect on PBMCs isolated from hyper-IgE blood. 61 54
16083870 2005
35
Non-Hodgkin's lymphoma in Job's syndrome: a case report and literature review. 54 61
15621772 2004
36
Cow's milk allergy in a patient with hyper-IgE syndrome. 54 61
15104201 2004
37
[28-Year-Old Patient with Elevated Serum IgE Levels and Multiple Refractory Epidural and Paravertebral Abscesses. Clinical manifestation of a Job's Syndrome?]. 61 54
14551710 2003
38
Selective insufficiency of IFN-gamma secretion in patients with hyper-IgE syndrome. 61 54
12708982 2003
39
Hyper immunoglobulin-E syndrome: a case with chronic ear draining mimicking polypoid otitis media. 54 61
12663115 2003
40
[Anesthetic management for a patient with hyper-IgE syndrome]. 61 54
12649874 2003
41
Detection and characterization of plasma cells in peripheral blood: correlation of IgE+ plasma cell frequency with IgE serum titre. 54 61
12452825 2002
42
[Manifestation of hyper-IgE syndrome in advanced HIV-1 infection]. 54 61
11831060 2002
43
Cytokine and chemokine dysregulation in hyper-IgE syndrome. 54 61
11414745 2001
44
[Loss of an eye due to hyper-IgE syndrome after corneal transplantation]. 54 61
11198964 2001
45
[Hyper-IgE syndrome treated with interferon alpha 2 beta. Report of a case]. 54 61
11558395 2000
46
The relationship between serum IgE and surface levels of FcepsilonR on human leukocytes in various diseases: correlation of expression with FcepsilonRI on basophils but not on monocytes or eosinophils. 61 54
10984372 2000
47
Bone marrow transplantation does not correct the hyper IgE syndrome. 61 54
10871737 2000
48
Defective interleukin-12/interferon-gamma pathway in patients with hyperimmunoglobulinemia E syndrome. 54 61
10657822 2000
49
Increase in granulocyte-macrophage-colony-stimulating factor secretion and the respiratory burst with decreased L-selectin expression in hyper-IgE syndrome patients. 54 61
10507271 1999
50
Pentasomy X and hyper IgE syndrome: co-existence of two distinct genetic disorders. 61 54
10485303 1999
Sources

Variations for Hyper Ige Syndrome

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ClinVar genetic disease variations for Hyper Ige Syndrome:

6 (show all 23) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STAT3 NM_139276.2(STAT3):c.1909G>A (p.Val637Met)SNV Pathogenic 18308 rs113994139 17:40474492-40474492 17:42322474-42322474
2 PGM3 NM_015599.3(PGM3):c.248T>C (p.Leu83Ser)SNV Pathogenic 133320 rs267608260 6:83898474-83898474 6:83188755-83188755
3 PGM3 NM_015599.3(PGM3):c.1504G>T (p.Asp502Tyr)SNV Pathogenic 133321 rs267608261 6:83880059-83880059 6:83170340-83170340
4 PGM3 NM_015599.3(PGM3):c.1016_1018AAG[1] (p.Glu340del)short repeat Pathogenic 156471 rs267608259 6:83888400-83888402 6:83178681-83178683
5 STAT3 NM_139276.2(STAT3):c.1979T>C (p.Met660Thr)SNV Pathogenic/Likely pathogenic 265261 rs886039434 17:40474422-40474422 17:42322404-42322404
6 DOCK8 NM_203447.3(DOCK8):c.828-7A>GSNV Conflicting interpretations of pathogenicity 366578 rs200243583 9:325664-325664 9:325664-325664
7 STAT3 NM_139276.2(STAT3):c.1234A>T (p.Thr412Ser)SNV Conflicting interpretations of pathogenicity 633433 rs1567713850 17:40481475-40481475 17:42329457-42329457
8 STAT3 NM_003150.4(STAT3):c.*2343_*2344deldeletion Uncertain significance 323205 rs886052928 17:40465419-40465420 17:42313401-42313402
9 STAT3 NM_003150.4(STAT3):c.*2343deldeletion Uncertain significance 323206 rs886052929 17:40465420-40465420 17:42313402-42313402
10 STAT3 NM_139276.2(STAT3):c.1101C>G (p.Cys367Trp)SNV Uncertain significance 323246 rs886052942 17:40483498-40483498 17:42331480-42331480
11 STAT3 NM_003150.4(STAT3):c.*2340dupduplication Uncertain significance 323207 rs886052930 17:40465422-40465423 17:42313404-42313405
12 STAT3 NM_003150.4(STAT3):c.*894deldeletion Uncertain significance 323230 rs373212106 17:40466869-40466869 17:42314851-42314851
13 STAT3 NM_003150.4(STAT3):c.*893dupduplication Uncertain significance 323231 rs754306251 17:40466869-40466870 17:42314851-42314852
14 DOCK8 NM_203447.3(DOCK8):c.1391C>T (p.Ser464Phe)SNV Uncertain significance 366674 rs531279290 9:336687-336687 9:336687-336687
15 DOCK8 NM_203447.3(DOCK8):c.3234+15dupduplication Uncertain significance 366970 rs375864618 9:399267-399268 9:399267-399268
16 DOCK8 NM_203447.3(DOCK8):c.5467C>T (p.Pro1823Ser)SNV Uncertain significance 367026 rs766493394 9:441986-441986 9:441986-441986
17 DOCK8 NM_203447.3(DOCK8):c.6068+11A>CSNV Uncertain significance 367035 rs886063964 9:452128-452128 9:452128-452128
18 STAT3 NM_003150.4(STAT3):c.*342_*344GTT[3]short repeat Likely benign 323237 rs533596827 17:40467410-40467412 17:42315392-42315394
19 STAT3 NM_003150.4(STAT3):c.*264dupduplication Likely benign 323238 rs554015274 17:40467498-40467499 17:42315480-42315481
20 DOCK8 NM_203447.3(DOCK8):c.3234+15deldeletion Likely benign 366971 rs375864618 9:399268-399268 9:399268-399268
21 DOCK8 NM_203447.3(DOCK8):c.404+16deldeletion Benign/Likely benign 180037 rs727505303 9:289591-289591 9:289591-289591
22 STAT3 NM_139276.3(STAT3):c.1601-10dupduplication Benign 165294 rs3830585 17:40475650-40475651 17:42323632-42323633
23 DOCK8 NM_203447.3(DOCK8):c.-113C>TSNV Benign 369626 rs2236547 9:214864-214864 9:214864-214864
Sources

Expression for Hyper Ige Syndrome

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Search GEO for disease gene expression data for Hyper Ige Syndrome.
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Pathways for Hyper Ige Syndrome

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Pathways related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 79)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 14.09 TYK2 TLR9 TLR4 TLR2 STAT3 IRAK4
2
ERK Signaling 63
Show member pathways
 13.88 STAT3 IRAK4 IL6 IL4R IL4 IL17A
3
PEDF Induced Signaling 63
Show member pathways
 13.76 TYK2 TLR4 STAT3 IL6ST IL6 IL4R
4
TGF-Beta Pathway 63
Show member pathways
 13.62 TYK2 STAT3 IL6 IL4R IL4 IL17A
5
Akt Signaling 63
Show member pathways
 13.49 TLR9 TLR4 TLR2 STAT3 IRAK4 IL6
6
Cytokine Signaling in Immune system 65
Show member pathways
 13.4 TYK2 STAT3 IRAK4 IL6ST IL6 IL4R
7
PAK Pathway 63
Show member pathways
 13.36 IL6 IL4R IL4 IL17A IL13 IL10
8
IL-2 Pathway 63
Show member pathways
 13.29 TLR9 TLR4 TLR2 STAT3 IRAK4 IL4R
9
Toll-like Receptor Signaling Pathway 36 1
Show member pathways
 13.15 TYK2 TLR9 TLR4 TLR2 STAT3 IRAK4
10
PI3K-Akt signaling pathway 36
Show member pathways
 13.05 TYK2 TLR4 TLR2 IL6 IL4R IL4
11
Human cytomegalovirus infection 36
Show member pathways
 13.02 TYK2 TLR4 TLR2 STAT3 IRAK4 IL6ST
12
Allograft rejection 1 36
Show member pathways
 12.94 IL6 IL4 IL17A IL13 IL10 IFNG
13
Pathways in cancer 36
12.93 STAT3 IL6ST IL6 IL4R IL4 IL13
14
Measles 36
Show member pathways
 12.93 TYK2 TLR9 TLR4 TLR2 STAT3 IRAK4
15
Herpes simplex virus 1 infection 36
12.88 TYK2 TLR9 TLR2 IRAK4 IL6 IFNG
16
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 64
Show member pathways
 12.83 TYK2 STAT3 IL6 IL4R IL4
17
Toll-Like receptor Signaling Pathways 64
Show member pathways
 12.78 TLR9 TLR4 TLR2 IRAK4 IL6
18
NF-KappaB Family Pathway 63
Show member pathways
 12.76 TLR9 TLR4 TLR2 IRAK4 IL6
19
Immune response NFAT in immune response 22
Show member pathways
 12.7 IL4R IL4 IL10 IGHE IFNG
20
Immune response IL-23 signaling pathway 22
Show member pathways
 12.68 TYK2 STAT3 IL6 IL17A IL10 IFNG
21
T cell receptor signaling pathway 36
Show member pathways
 12.67 TLR9 TLR4 TLR2 STAT3 IL6 IL4
22
NF-kappaB Signaling 4
12.54 TYK2 TLR9 TLR2 STAT3 IRAK4 IL6ST
23
Development IGF-1 receptor signaling 22
Show member pathways
 12.49 TYK2 STAT3 IL4R IL4 IGHE
24
JAK-STAT signaling pathway 36
Show member pathways
 12.48 TYK2 STAT3 IL6ST IL6 IL4R IL4
25
CNTF Signaling 63
Show member pathways
 12.43 TYK2 TLR4 TLR2 STAT3 IL6ST
26
IL-17 Family Signaling Pathways 64
Show member pathways
 12.43 TLR2 STAT3 IL6ST IL6 IL4 IL17A
27
Salmonella infection (KEGG) 36
12.4 TLR9 TLR4 TLR2 IRAK4 IL6
28
Chemokine Superfamily: Human/Mouse Ligand-Receptor Interactions 64
Show member pathways
 12.39 IL6ST IL6 IL10 CCR6
29
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 12.38 TYK2 IL6 IL4 IL17A IL13 IL10
30
Tuberculosis 36
12.38 TLR9 TLR4 TLR2 IRAK4 IL6 IL10
31
Diseases associated with the TLR signaling cascade 65
Show member pathways
 12.36 TLR9 TLR4 TLR2 IRAK4 IL6
32
Toll Comparative Pathway 63
Show member pathways
 12.35 TLR4 IRAK4 IL6 IFNG
33
Colorectal Cancer Metastasis 63
12.32 TLR9 TLR4 TLR2 STAT3 IL6 IFNG
34
NOD-like receptor signaling pathway 36
12.3 TYK2 TLR4 IRAK4 IL6
35
Bacterial infections in CF airways 22
Show member pathways
 12.3 TLR9 TLR4 TLR2 IRAK4 IL6 IL4
36
Necroptosis 36
Show member pathways
 12.27 TYK2 TLR4 STAT3 IFNG
37
Toxoplasmosis 36
Show member pathways
 12.25 TYK2 TLR4 TLR2 STAT3 IRAK4 IL4
38
Jak Stat Signaling Pathway 66
Show member pathways
 12.21 TYK2 STAT3 IL4R IL4
39
MAPK Pathway 70
Show member pathways
 12.15 TLR9 TLR4 TLR2 STAT3 IL13
40
Yersinia infection 36
12.11 TLR4 IRAK4 IL6 IL10
41
Spinal Cord Injury 1
12.1 TLR4 IL6 IL4 IFNG
42
Hematopoietic Stem Cells and Lineage-specific Markers 64
12.09 IL6 IL4 IL10 IFNG
43
IL12-mediated signaling events 1
Show member pathways
 12.07 TYK2 STAT3 IL4 IFNG
44
Amoebiasis 36
12.06 TLR4 TLR2 IL6 IL10 IFNG
45
HIF-1 signaling pathway 36
12.05 TLR4 STAT3 IL6 IFNG
46
Rheumatoid arthritis 36
12.01 TLR4 TLR2 IL6 IL17A IFNG
47
Cytokine production by Th17 cells in CF (Mouse model) 22
Show member pathways
 12.01 TLR4 STAT3 IL6ST IL6 IL17A
48
Interleukin-4 and 13 signaling 65
11.97 TYK2 STAT3 IL6 IL4R IL4 IL17A
49
Th17 cell differentiation 36
Show member pathways
 11.94 TYK2 TLR4 TLR2 STAT3 IL6ST IL6
50
IL-6 signaling pathway 1
Show member pathways
 11.93 TYK2 STAT3 IL6ST IL6
Sources

GO Terms for Hyper Ige Syndrome

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Cellular components related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.86 IRAK4 IL6 IL4R IL4 IL17A IL13
2 extracellular region GO:0005576 9.85 TLR9 IL6ST IL6 IL4R IL4 IL17A
3 external side of plasma membrane GO:0009897 9.1 TLR4 IL6ST IL17A IL13 IGHE CCR6
4 interleukin-6 receptor complex GO:0005896 8.96 IL6ST IL6

Biological processes related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.32 TLR9 TLR4 TLR2 STAT3 IRAK4 IL6ST
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.26 TLR9 TLR4 TLR2 STAT3 IL6 IL4
3 immune system process GO:0002376 10.2 TLR9 TLR4 TLR2 IRAK4 IL4R IGHE
4 inflammatory response GO:0006954 10.08 TLR9 TLR4 TLR2 STAT3 IL6 IL17A
5 positive regulation of gene expression GO:0010628 10.03 TLR9 TLR4 TLR2 STAT3 IL6 IL4
6 positive regulation of NF-kappaB transcription factor activity GO:0051092 10.02 TLR9 TLR4 TLR2 STAT3 IL6
7 response to lipopolysaccharide GO:0032496 10 TLR4 TLR2 IL13 IL10
8 positive regulation of inflammatory response GO:0050729 9.94 TLR9 TLR4 TLR2 IFNG
9 defense response to Gram-negative bacterium GO:0050829 9.91 TLR9 TLR4 IL6
10 positive regulation of interleukin-6 production GO:0032755 9.91 TLR9 TLR4 TLR2 IL6
11 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.89 TLR9 TLR4 TLR2
12 positive regulation of T cell proliferation GO:0042102 9.89 IL6ST IL6 IL4
13 positive regulation of smooth muscle cell proliferation GO:0048661 9.89 IRAK4 IL6 IL13
14 humoral immune response GO:0006959 9.88 IL6 IFNG CCR6
15 positive regulation of tumor necrosis factor production GO:0032760 9.88 TLR9 TLR4 TLR2
16 toll-like receptor signaling pathway GO:0002224 9.88 TLR9 TLR4 TLR2 IRAK4
17 positive regulation of interleukin-6 secretion GO:2000778 9.87 TLR4 TLR2 IL17A IFNG
18 interleukin-12-mediated signaling pathway GO:0035722 9.86 TYK2 IL10 IFNG
19 positive regulation of B cell proliferation GO:0030890 9.86 TLR9 TLR4 IL4 IL13
20 negative regulation of endothelial cell apoptotic process GO:2000352 9.85 IL4 IL13 IL10
21 negative regulation of interleukin-6 production GO:0032715 9.85 TLR9 TLR4 IL10
22 positive regulation of interleukin-8 production GO:0032757 9.84 TLR9 TLR4 TLR2
23 positive regulation of interferon-beta production GO:0032728 9.83 TLR9 TLR4 TLR2
24 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.83 TLR9 TLR4 TLR2 IRAK4
25 positive regulation of tumor necrosis factor biosynthetic process GO:0042535 9.81 TLR4 IL17A IFNG
26 interleukin-6-mediated signaling pathway GO:0070102 9.81 STAT3 IL6ST IL6
27 microglial cell activation GO:0001774 9.81 TLR2 IL4 IL13 IFNG
28 macrophage activation GO:0042116 9.8 TLR4 IL4 IL13
29 positive regulation of interleukin-12 production GO:0032735 9.8 TLR9 TLR4 TLR2 IFNG
30 I-kappaB phosphorylation GO:0007252 9.79 TLR9 TLR4 TLR2
31 interleukin-27-mediated signaling pathway GO:0070106 9.78 TYK2 STAT3 IL6ST
32 positive regulation of interleukin-10 production GO:0032733 9.78 TLR9 TLR4 TLR2 IL4
33 positive regulation of mast cell degranulation GO:0043306 9.77 IL4R IL4 IL13
34 response to molecule of bacterial origin GO:0002237 9.77 TLR9 TLR2 IL10
35 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.76 TLR4 STAT3 IL6 IL17A
36 regulation of cytokine secretion GO:0050707 9.74 TLR9 TLR2
37 positive regulation of interleukin-10 secretion GO:2001181 9.74 IL4 IL13
38 interleukin-35-mediated signaling pathway GO:0070757 9.73 STAT3 IL6ST
39 negative regulation of tumor necrosis factor biosynthetic process GO:0042536 9.73 IL4 IL10
40 cellular response to lipoteichoic acid GO:0071223 9.73 TLR4 TLR2
41 negative regulation of interleukin-8 production GO:0032717 9.73 TLR9 IL10
42 positive regulation of interleukin-1 beta biosynthetic process GO:0050725 9.73 IL17A IFNG
43 interleukin-23-mediated signaling pathway GO:0038155 9.73 TYK2 STAT3
44 immune response GO:0006955 9.73 TLR9 TLR4 TLR2 IL6 IL4R IL4
45 positive regulation of interferon-beta biosynthetic process GO:0045359 9.72 TLR9 TLR4
46 positive regulation of interleukin-12 biosynthetic process GO:0045084 9.72 TLR4 IL17A
47 neutrophil mediated immunity GO:0002446 9.72 IRAK4 IL6
48 positive regulation of immunoglobulin production GO:0002639 9.72 TLR9 IL4R IL13
49 tumor necrosis factor production GO:0032640 9.71 TLR9 TLR2
50 T-helper 17 cell lineage commitment GO:0072540 9.71 STAT3 IL6

Molecular functions related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 interleukin-6 receptor binding GO:0005138 9.16 IL6ST IL6
2 cytokine activity GO:0005125 9.1 IL6 IL4 IL17A IL13 IL10 IFNG
3 lipopolysaccharide receptor activity GO:0001875 8.96 TLR4 TLR2
Sources

Sources for Hyper Ige Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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